Canonical Allele Identifier: CA114372

Gene: PAH

Linked Data

• ClinVar Variation Id: 632
• ClinVar RCV Id: RCV000000664 ; RCV000089065 ; RCV000346938 ; RCV002512615
• dbSNP Id: rs76212747
• ExAC: 12:103246701 A / G
• gnomAD v2: 12-103246701-A-G
• gnomAD v3: 12-102852923-A-G
• gnomAD v4: 12-102852923-A-G
• MyVariant Identifiers: chr12:g.103246701A>G (hg19) ; chr12:g.102852923A>G (hg38)
• PubMed: PMID:8088845 ; PMID:8406445 ; PMID:8659548 ; PMID:9781015 ; PMID:10394930 ; PMID:11161839 ; PMID:12501224 ; PMID:12655553 ; PMID:16198137 ; PMID:17935162 ; PMID:23764561 ; PMID:24296287 ; PMID:24350308 ; PMID:25596310 ; PMID:26666653
• ERepo: CA114372/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852923A>G , CM000674.2:g.102852923A>G	GRCh38
NC_000012.11:g.103246701A>G , CM000674.1:g.103246701A>G	GRCh37
NC_000012.10:g.101770831A>G	NCBI36
NG_008690.1:g.69680T>C
NG_008690.2:g.110488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.734T>C MANE Select	ENSP00000448059.1:p.Val245Ala
ENST00000307000.7:c.719T>C	ENSP00000303500.2:p.Val240Ala
ENST00000549247.6:n.493T>C
ENST00000553106.5:c.734T>C	ENSP00000448059.1:p.Val245Ala
NM_000277.1:c.734T>C	NP_000268.1:p.Val245Ala
XM_011538422.1:c.734T>C	XP_011536724.1:p.Val245Ala
NM_000277.2:c.734T>C	NP_000268.1:p.Val245Ala
NM_001354304.1:c.734T>C	NP_001341233.1:p.Val245Ala
NM_000277.3:c.734T>C MANE Select	NP_000268.1:p.Val245Ala
NM_001354304.2:c.734T>C	NP_001341233.1:p.Val245Ala